NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002480636.3
Allele description [Variation Report for NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)]
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)
Condition(s)
- Name:
- Hypercholesterolemia, familial, 1
- Synonyms:
- LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890
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RecName: Full=Dipeptidyl peptidase 4; AltName: Full=Dipeptidyl peptidase IV; Sho...
RecName: Full=Dipeptidyl peptidase 4; AltName: Full=Dipeptidyl peptidase IV; Short=DPP IV; AltName: Full=T-cell activation antigen CD26; AltName: Full=Thymocyte-activating molecule; Short=THAM; AltName: CD_antigen=CD26; Contains: RecName: Full=Dipeptidyl peptidase 4 membrane form; AltName: Full=Dipeptidyl peptidase IV membrane form; Contains: RecName: Full=Dipeptidyl peptidase 4 soluble form; AltName: Full=Dipeptidyl peptidase IV soluble formgi|1352312|sp|P28843.3|DPP4_MOUSEProtein
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Methylobacterium phyllostachyos NBRC 105206
Methylobacterium phyllostachyos NBRC 105206biosample
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Last Updated: Sep 29, 2024